ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2631G>A (p.Ala877=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002624317 SCV003515180 uncertain significance Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 2022-03-17 criteria provided, single submitter clinical testing This sequence change affects codon 877 of the KCNT1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the KCNT1 protein. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with KCNT1-related conditions. This variant is present in population databases (rs761157491, gnomAD 0.003%).

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